ClinVar Miner

List of variants in gene PYGM reported by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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Total variants: 15
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HGVS dbSNP
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752
NM_005609.4(PYGM):c.1403+24G>A rs71581782
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626
NM_005609.4(PYGM):c.1827+7A>G rs532747
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005609.4(PYGM):c.425-22C>T rs61884454

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